LDH info

Canonical Allele Identifier: CA167953
Gene: CDH1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 142285
dbSNP Id: rs587782359

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68812244C>T , CM000678.2:g.68812244C>T GRCh38
NC_000016.9:g.68846147C>T , CM000678.1:g.68846147C>T GRCh37
NC_000016.8:g.67403648C>T NCBI36
NG_008021.1:g.79953C>T , LRG_301:g.79953C>T

Transcript Alleles

HGVS Amino-acid change
NM_004360.3:c.1118C>T , LRG_301t1:c.1118C>T NP_004351.1:p.Pro373Leu
XM_011523488.1:c.383C>T XP_011521790.1:p.Pro128Leu
XM_011523489.1:c.383C>T XP_011521791.1:p.Pro128Leu
NM_001317184.1:c.1118C>T VV NP_001304113.1:p.Pro373Leu
NM_001317185.1:c.-498C>T VV NP_001304114.1:p.=
NM_001317186.1:c.-702C>T VV NP_001304115.1:p.=
NM_004360.4:c.1118C>T VV NP_004351.1:p.Pro373Leu
NM_004360.5:c.1118C>T VV MANE Preferred NP_004351.1:p.Pro373Leu
ENST00000261769.9:c.1118C>T ENSP00000261769.4:p.Pro373Leu
ENST00000422392.6:c.1118C>T ENSP00000414946.2:p.Pro373Leu
ENST00000562836.5:n.1189C>T
ENST00000565810.1:n.162C>T
ENST00000566510.5:c.962C>T ENSP00000458139.1:p.Pro321Leu
ENST00000566612.5:c.1118C>T ENSP00000454782.1:p.Pro373Leu
ENST00000611625.4:c.1118C>T ENSP00000481063.1:p.Pro373Leu
ENST00000612417.4:c.1118C>T ENSP00000478360.1:p.Pro373Leu
ENST00000621016.4:c.1118C>T ENSP00000480664.1:p.Pro373Leu